Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)

por Jeyaratnam, J, ter Haar, N, de Sain-van der Velden, M, Waterham, H, van Gijn, M, Frenkel, J
Publicado 2015

In response to “Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS” by van den Bosch et al.

por Albersen, M., van der Ham, M., Verhoeven-Duif, N. M., Groenendaal, F., de Sain-van der Velden, M. G. M.
Publicado 2011

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry

por Prinsen, Hubertus C. M. T., Schiebergen-Bronkhorst, B. G. M., Roeleveld, M. W., Jans, J. J. M., de Sain-van der Velden, M. G. M., Visser, G., van Hasselt, P. M., Verhoeven-Duif, N. M.
Publicado 2016

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

por Diekman, E. F., Visser, G., Schmitz, J. P. J., Nievelstein, R. A. J., de Sain-van der Velden, M., Wardrop, M., Van der Pol, W. L., Houten, S. M., van Riel, N. A. W., Takken, T., Jeneson, J. A. L.
Publicado 2016

Saline is as effective as nitrogen scavengers for treatment of hyperammonemia

por van Straten, G., de Sain-van der Velden, M. G. M., van Geijlswijk, I. M., Favier, R. P., Mesu, S. J., Holwerda-Loof, N. E., van der Ham, M., Fieten, H., Rothuizen, J., Spee, B., Verhoeven-Duif, N. M.
Publicado 2017